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Article

NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.

American journal of medical genetics. Part A - 1 Feb 2013

Al-Kateb Hussam, Shimony Joshua S, Vineyard Marisa, Manwaring Linda, Kulkarni Shashikant, Shinawi Marwan

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Share to Abnormalities, Multiple
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 5
Share to Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haploinsufficiency

Share to Molecular Diagnostic Techniques

Share to Oligonucleotide Array Sequence Analysis

Share to Optic Atrophy

Source

Identifiers

PMID: 23300014
DOI: 10.1002/ajmg.a.35650

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NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.PMID 23300014Read ↗

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A de novo NR2F1 c.330 C > A variant in Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with early-onset developmental and epileptic encephalopathy.Semantic proximity Read ↗

Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndromeSemantic proximity Read ↗

Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.Semantic proximity Read ↗

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.Semantic proximity Read ↗

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